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UMS
MCID: ULN003
MIFTS: 52

Ulnar-Mammary Syndrome (UMS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ulnar-Mammary Syndrome

About this section

MalaCards integrated aliases for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 57 12 53 59 74 37 29 13 55 6 44 15 40 72
Schinzel Syndrome 57 12 75 53 59
Ums 57 53 59 74
Pallister Ulnar-Mammary Syndrome 57 12 59
Ulnar-Mammary Syndrome of Pallister 53

Characteristics:

Orphanet epidemiological data:

59
ulnar-mammary syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ulnar-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Reproductive diseases Bone diseases Endocrine diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060614
OMIM 57 181450
KEGG 37 H00637
MeSH 44 C536937
MESH via Orphanet 45 C536937
ICD10 via Orphanet 34 Q71.8
UMLS via Orphanet 73 C1866994
Orphanet 59 ORPHA3138
MedGen 42 C1866994
UMLS 72 C1866994
Sources

Summaries for Ulnar-Mammary Syndrome

About this section
NIH Rare Diseases : 53 Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature, and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose. UMS is caused by mutations in the TBX3 gene and inheritance is autosomal dominant. However, not all people who have or inherit a mutation will have features of UMS. This phenomenon is called incomplete penetrance. Treatment depends on the specific symptoms and severity in each person and may include surgery to improve the function or appearance of limbs, and hormone replacement therapy if hormonal deficiencies are present. The exact prevalence of UMS is not currently known, but less than 150 cases have been reported in the medical literature to date.

MalaCards based summary : Ulnar-Mammary Syndrome, also known as schinzel syndrome, is related to holt-oram syndrome and heart septal defect. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box Transcription Factor 3), and among its related pathways/superpathways is Heart Development. Affiliated tissues include breast, pituitary and bone, and related phenotypes are abnormality of temperature regulation and aplasia/hypoplasia of the ulna

Disease Ontology : 12 A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has material basis in heterozygous mutation in the TBX3 gene.

OMIM : 57 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). (181450)

KEGG : 37
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS.

UniProtKB/Swiss-Prot : 74 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia : 75 Ulnar-mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

Sources

Related Diseases for Ulnar-Mammary Syndrome

About this section

Diseases related to Ulnar-Mammary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 holt-oram syndrome 30.1 TBX5 TBX3 TBX1
2 heart septal defect 29.7 TBX5 TBX1
3 digeorge syndrome 29.5 TBX5 TBX3 TBX1
4 ritscher-schinzel syndrome 1 12.7
5 ritscher-schinzel syndrome 2 12.6
6 ritscher-schinzel syndrome 12.4
7 limb-mammary syndrome 11.5
8 acrocallosal syndrome 11.4
9 polydactyly, postaxial, type a1 10.2
10 cryptorchidism, unilateral or bilateral 10.2
11 polydactyly 10.2
12 growth hormone deficiency 10.2
13 murcs association 10.2 TBX5 TBX3
14 acheiropody 10.1 TBX5 TBX3
15 hypertelorism 10.1
16 adult syndrome 10.0
17 ankyloglossia with or without tooth anomalies 10.0
18 breasts and/or nipples, aplasia or hypoplasia of, 1 10.0
19 hepatocellular carcinoma 10.0
20 cardiac arrhythmia 10.0
21 anus, imperforate 10.0
22 pseudovaginal perineoscrotal hypospadias 10.0
23 duane-radial ray syndrome 10.0
24 brachydactyly 10.0
25 tooth agenesis 10.0
26 hypogonadotropic hypogonadism 10.0
27 ventricular septal defect 10.0
28 hypogonadism 10.0
29 pituitary hypoplasia 10.0
30 hypogonadotropism 10.0
31 bicornuate uterus 10.0
32 mayer-rokitansky-kuster-hauser syndrome 10.0 TBX5 TBX3
33 cleidocranial dysplasia 9.9
34 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
35 megalocornea 9.9
36 cree mental retardation syndrome 9.9
37 alacrima, achalasia, and mental retardation syndrome 9.9
38 pulmonary hypertension 9.9
39 autosomal recessive disease 9.9
40 clubfoot 9.9
41 cleidocranial dysplasia spectrum disorder 9.9
42 talipes equinovarus 9.9
43 hypotonia 9.9
44 megalencephaly 9.9
45 sinoatrial node disease 9.7 TBX3 TBX18
46 inguinal hernia 9.7 TBX3 TBX2 TBX1
47 atrioventricular septal defect 9.6 TBX5 TBX1

Graphical network of the top 20 diseases related to Ulnar-Mammary Syndrome:



Diseases related to Ulnar-Mammary Syndrome
Sources

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

About this section

Human phenotypes related to Ulnar-Mammary Syndrome:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of temperature regulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0004370
2 aplasia/hypoplasia of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0006495
3 absent axillary hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002221
4 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
5 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
8 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
9 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
10 abnormality of the uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000130
11 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
12 hypoplastic nipples 59 32 frequent (33%) Frequent (79-30%) HP:0002557
13 abnormality of the wrist 59 32 frequent (33%) Frequent (79-30%) HP:0003019
14 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
15 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
16 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
17 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
18 sprengel anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000912
19 hernia of the abdominal wall 59 32 occasional (7.5%) Occasional (29-5%) HP:0004299
20 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
21 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
22 renal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000089
23 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
24 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
25 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
26 short distal phalanx of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009882
27 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
28 abnormality of the clavicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000889
29 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
30 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
31 absent hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0004050
32 aplasia of the pectoralis major muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0009751
33 breast aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100783
34 abnormality of the humerus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003063
35 abnormality of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0002818
36 inguinal hernia 32 HP:0000023
37 abnormality of the fingernails 59 Very frequent (99-80%)
38 inverted nipples 32 HP:0003186
39 micropenis 32 HP:0000054
40 abnormality of finger 59 Very frequent (99-80%)
41 sparse lateral eyebrow 32 HP:0005338
42 hypoplasia of the ulna 32 HP:0003022
43 hypoplasia of the radius 32 HP:0002984
44 shawl scrotum 32 HP:0000049
45 hypoplastic scapulae 32 HP:0000882
46 short clavicles 32 HP:0000894
47 anal stenosis 32 HP:0002025
48 absent radius 32 HP:0003974
49 subglottic stenosis 32 HP:0001607
50 sparse axillary hair 32 HP:0002215

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Endocrine Features:
delayed puberty
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Abdomen Gastrointestinal:
anal atresia
pyloric stenosis
anal stenosis

Head And Neck Teeth:
hypodontia
ectopic upper canines

Respiratory Larynx:
subglottic stenosis

Genitourinary Internal Genitalia Female:
imperforate hymen

Skeletal Hands:
postaxial polydactyly
absent 3rd, 4th, and 5th ulnar rays

Skeletal Limbs:
hypoplastic humerus
hypoplastic/absent/deformed ulna
hypoplastic/absent/deformed radius

Head And Neck Eyes:
scant lateral eyebrows

Skeletal Feet:
short fourth and fifth toes

Abdomen External Features:
inguinal hernia

Chest Breasts:
inverted nipples
breast hypoplasia
nipple hypoplasia

Cardiovascular Heart:
ventricular septal defect
wolff-parkinson-white arrhythmia

Genitourinary External Genitalia Male:
shawl scrotum
small penis

Skin Nails Hair Hair:
sparse axillary hair

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Skin Nails Hair Skin:
axillary apocrine gland hypoplasia

Growth Height:
delayed growth

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapula
hypoplastic clavicle

Clinical features from OMIM:

181450

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 TBX1 TBX15 TBX18 TBX19 TBX2 TBX3
2 embryo MP:0005380 9.88 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
3 cardiovascular system MP:0005385 9.85 TBX1 TBX18 TBX2 TBX3 TBX5
4 craniofacial MP:0005382 9.83 TBX1 TBX15 TBX18 TBX2 TBX3
5 integument MP:0010771 9.72 TBX1 TBX15 TBX18 TBX19 TBX3
6 limbs/digits/tail MP:0005371 9.65 TBX1 TBX15 TBX2 TBX3 TBX5
7 mortality/aging MP:0010768 9.63 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
8 muscle MP:0005369 9.35 TBX1 TBX15 TBX18 TBX3 TBX5
9 skeleton MP:0005390 9.02 TBX1 TBX15 TBX18 TBX3 TBX5
Sources

Drugs & Therapeutics for Ulnar-Mammary Syndrome

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of TBX3 in Human ES Cell Differentiation Unknown status NCT00581152

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Cochrane evidence based reviews: ulnar-mammary syndrome

Sources

Genetic Tests for Ulnar-Mammary Syndrome

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Genetic tests related to Ulnar-Mammary Syndrome:

# Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome 29 TBX3
Sources

Anatomical Context for Ulnar-Mammary Syndrome

About this section

MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

41
Breast, Pituitary, Bone, Uterus, Heart, Liver, Hypothalamus
Sources

Publications for Ulnar-Mammary Syndrome

About this section

Articles related to Ulnar-Mammary Syndrome:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. 9 38 8 71
12668170 2002
2
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. 9 38 8 71
9207801 1997
3
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. 38 8 71
28145909 2017
4
Ulnar Mammary syndrome and TBX3: expanding the phenotype. 38 8 71
19938096 2009
5
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. 38 8 71
12116211 2002
6
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. 9 38 8
16896345 2006
7
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. 9 8
16892408 2006
8
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. 38 8
8923944 1996
9
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. 38 8
8595424 1995
10
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. 38 8
1481852 1992
11
Ulnar-mammary syndrome. 38 8
3430557 1987
12
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. 38 8
3621662 1987
13
The Schinzel syndrome in a mother and daughter. 38 8
6538465 1984
14
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. 38 8
991870 1976
15
Laryngeal web, congenital heart disease and low stature. A syndrome? 8
7247825 1981
16
Transcription factor Tbx3 is required for the specification of the atrioventricular conduction system. 9 38
18467625 2008
17
Tbx3 is a downstream target of the Wnt/beta-catenin pathway and a critical mediator of beta-catenin survival functions in liver cancer. 9 38
17283120 2007
18
Isl1Cre reveals a common Bmp pathway in heart and limb development. 9 38
16556916 2006
19
TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. 9 38
15289316 2004
20
Interactions between FGF and Wnt signals and Tbx3 gene expression in mammary gland initiation in mouse embryos. 9 38
15255957 2004
21
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. 9 38
12668638 2003
22
T-box genes in human disorders. 9 38
12668595 2003
23
Regulation of Tbx3 expression by anteroposterior signalling in vertebrate limb development. 9 38
12376101 2002
24
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. 9 38
12005433 2002
25
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. 9 38
11689487 2001
26
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. 9 38
10468588 1999
27
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. 9 38
10330342 1999
28
Isolation of a Drosophila T-box gene closely related to human TBX1. 9 38
9611267 1998
29
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome. 38
30654152 2019
30
Loss of Tbx3 in murine neural crest reduces enteric glia and causes cleft palate, but does not influence heart development or bowel transit. 38
30292786 2018
31
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. 38
30550377 2018
32
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation. 38
29963074 2018
33
The T-Box transcription factor 3 in development and cancer. 38
28579578 2017
34
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. 38
28555453 2017
35
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. 38
27491074 2016
36
Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes. 38
27722056 2016
37
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 38
24916641 2015
38
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. 38
25712599 2015
39
The T-Box factor TBX3 is important in S-phase and is regulated by c-Myc and cyclin A-CDK2. 38
26266831 2015
40
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. 38
25434475 2015
41
Short communication: Expression of T-box 2 and 3 in the bovine mammary gland. 38
24767885 2014
42
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. 38
24664963 2014
43
Ulnar mammary syndrome. 38
24679913 2014
44
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. 38
24675841 2014
45
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. 38
25328580 2014
46
Transcriptional repressor Tbx3 is required for the hormone-sensing cell lineage in mammary epithelium. 38
25343378 2014
47
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 38
24065355 2013
48
The oncogenic TBX3 is a downstream target and mediator of the TGF-β1 signaling pathway. 38
24025717 2013
49
Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child. 38
24381628 2013
50
The T-box transcription factors TBX2 and TBX3 in mammary gland development and breast cancer. 38
23624936 2013
Sources

Variations for Ulnar-Mammary Syndrome

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ClinVar genetic disease variations for Ulnar-Mammary Syndrome:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBX3 NM_016569.4(TBX3): c.1483C> T (p.Gln495Ter) single nucleotide variant Pathogenic rs1060505020 12:115112257-115112257 12:114674452-114674452
2 TBX3 TBX3, 1-BP DEL, 227T deletion Pathogenic
3 TBX3 TBX3, IVS2DS, G-C, +1 single nucleotide variant Pathogenic
4 TBX3 NM_016569.4(TBX3): c.877A> T (p.Lys293Ter) single nucleotide variant Pathogenic rs104894376 12:115115449-115115449 12:114677644-114677644
5 TBX3 TBX3, 1-BP INS, 88A insertion Pathogenic
6 TBX3 NM_016569.4(TBX3): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs397514484 12:115114166-115114166 12:114676361-114676361
7 TBX3 NM_016569.4(TBX3): c.1980_1981dup (p.Pro661fs) duplication Pathogenic 12:115109897-115109898 12:114672092-114672093
8 TBX3 NM_016569.4(TBX3): c.2034C> T (p.Ala678=) single nucleotide variant Conflicting interpretations of pathogenicity rs370307666 12:115109844-115109844 12:114672039-114672039
9 TBX3 NM_016569.4(TBX3): c.-895_-894TC[14] short repeat Conflicting interpretations of pathogenicity rs57078153 12:115121877-115121880 12:114684072-114684075
10 TBX3 NM_016569.4(TBX3): c.-895_-894TC[15] short repeat Uncertain significance rs57078153 12:115121877-115121882 12:114684072-114684077
11 TBX3 NM_016569.4(TBX3): c.-895_-894TC[18] short repeat Uncertain significance rs57078153 12:115121877-115121888 12:114684072-114684083
12 TBX3 NM_016569.4(TBX3): c.*1181G> A single nucleotide variant Uncertain significance rs886049004 12:115108465-115108465 12:114670660-114670660
13 TBX3 NM_016569.4(TBX3): c.*403_*404del deletion Uncertain significance rs761090292 12:115109242-115109243 12:114671437-114671438
14 TBX3 NM_016569.4(TBX3): c.324G> A (p.Glu108=) single nucleotide variant Uncertain significance rs367579046 12:115120682-115120682 12:114682877-114682877
15 TBX3 NM_016569.4(TBX3): c.-181del deletion Uncertain significance rs886049013 12:115121186-115121186 12:114683381-114683381
16 TBX3 NM_016569.4(TBX3): c.-378T> A single nucleotide variant Uncertain significance rs886049017 12:115121383-115121383 12:114683578-114683578
17 TBX3 NM_016569.4(TBX3): c.-326G> T single nucleotide variant Uncertain significance rs886049016 12:115121331-115121331 12:114683526-114683526
18 TBX3 NM_016569.4(TBX3): c.-895_-894TC[11] short repeat Uncertain significance rs57078153 12:115121877-115121878 12:114684072-114684073
19 TBX3 NM_016569.4(TBX3): c.*14A> G single nucleotide variant Uncertain significance rs886049009 12:115109632-115109632 12:114671827-114671827
20 TBX3 NM_016569.4(TBX3): c.2031G> A (p.Leu677=) single nucleotide variant Uncertain significance rs757640161 12:115109847-115109847 12:114672042-114672042
21 TBX3 NM_016569.4(TBX3): c.263G> A (p.Arg88Lys) single nucleotide variant Uncertain significance rs886049011 12:115120743-115120743 12:114682938-114682938
22 TBX3 NM_016569.4(TBX3): c.-183C> T single nucleotide variant Uncertain significance rs886049014 12:115121188-115121188 12:114683383-114683383
23 TBX3 NM_016569.4(TBX3): c.-209G> A single nucleotide variant Uncertain significance rs774475860 12:115121214-115121214 12:114683409-114683409
24 TBX3 NM_016569.4(TBX3): c.-331T> C single nucleotide variant Uncertain significance rs562724016 12:115121336-115121336 12:114683531-114683531
25 TBX3 NM_016569.4(TBX3): c.-441C> G single nucleotide variant Uncertain significance rs752801993 12:115121446-115121446 12:114683641-114683641
26 TBX3 NM_016569.4(TBX3): c.-568T> A single nucleotide variant Uncertain significance rs557484451 12:115121573-115121573 12:114683768-114683768
27 TBX3 NM_016569.4(TBX3): c.-873_-872insTT insertion Uncertain significance rs886049021 12:115121877-115121878 12:114684072-114684073
28 TBX3 NM_016569.4(TBX3): c.-895_-894TC[17] short repeat Uncertain significance rs57078153 12:115121877-115121886 12:114684072-114684081
29 TBX3 NM_016569.4(TBX3): c.1716G> A (p.Gly572=) single nucleotide variant Uncertain significance rs886049010 12:115112024-115112024 12:114674219-114674219
30 TBX3 NM_016569.4(TBX3): c.*529G> A single nucleotide variant Uncertain significance rs886049006 12:115109117-115109117 12:114671312-114671312
31 TBX3 NM_016569.4(TBX3): c.*15C> G single nucleotide variant Uncertain significance rs886049008 12:115109631-115109631 12:114671826-114671826
32 TBX3 NM_016569.4(TBX3): c.*1539del deletion Uncertain significance rs886049002 12:115108107-115108107 12:114670302-114670302
33 TBX3 NM_016569.4(TBX3): c.1850C> T (p.Ala617Val) single nucleotide variant Uncertain significance rs200821102 12:115110028-115110028 12:114672223-114672223
34 TBX3 NM_016569.4(TBX3): c.*715C> G single nucleotide variant Uncertain significance rs886049005 12:115108931-115108931 12:114671126-114671126
35 TBX3 NM_016569.4(TBX3): c.-71A> G single nucleotide variant Uncertain significance rs886049012 12:115121076-115121076 12:114683271-114683271
36 TBX3 NM_016569.4(TBX3): c.-392A> G single nucleotide variant Uncertain significance rs886049018 12:115121397-115121397 12:114683592-114683592
37 TBX3 NM_016569.4(TBX3): c.-872_-871insTCCCTC insertion Uncertain significance rs112192237 12:115121876-115121877 12:114684071-114684072
38 TBX3 NM_016569.4(TBX3): c.*471T> G single nucleotide variant Uncertain significance rs746896090 12:115109175-115109175 12:114671370-114671370
39 TBX3 NM_016569.4(TBX3): c.*400_*403del deletion Uncertain significance rs886049007 12:115109243-115109246 12:114671438-114671441
40 TBX3 NM_016569.4(TBX3): c.2064G> A (p.Ser688=) single nucleotide variant Uncertain significance rs139599654 12:115109814-115109814 12:114672009-114672009
41 TBX3 NM_016569.4(TBX3): c.*1382G> C single nucleotide variant Uncertain significance rs886049003 12:115108264-115108264 12:114670459-114670459
42 TBX3 NM_016569.4(TBX3): c.1071C> T (p.Ala357=) single nucleotide variant Uncertain significance rs745496316 12:115114146-115114146 12:114676341-114676341
43 TBX3 NM_016569.4(TBX3): c.-517_-514del deletion Uncertain significance rs886049019 12:115121519-115121522 12:114683714-114683717
44 TBX3 NM_016569.4(TBX3): c.-275A> G single nucleotide variant Uncertain significance rs886049015 12:115121280-115121280 12:114683475-114683475
45 TBX3 NM_016569.4(TBX3): c.390-9G> A single nucleotide variant Uncertain significance rs753151479 12:115118960-115118960 12:114681155-114681155
46 TBX3 NM_016569.4(TBX3): c.-591dup duplication Uncertain significance rs11356115 12:115121596-115121596 12:114683791-114683791
47 TBX3 NM_016569.4(TBX3): c.-910C> G single nucleotide variant Uncertain significance rs886049022 12:115121915-115121915 12:114684110-114684110
48 TBX3 NM_016569.4(TBX3): c.151G> A (p.Ala51Thr) single nucleotide variant Uncertain significance 12:115120855-115120855 12:114683050-114683050
49 TBX3 NM_016569.4(TBX3): c.-29G> T single nucleotide variant Likely benign rs56112787 12:115121034-115121034 12:114683229-114683229
50 TBX3 NM_016569.4(TBX3): c.-507G> T single nucleotide variant Likely benign rs550481010 12:115121512-115121512 12:114683707-114683707

UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 TBX3 p.Leu143Pro VAR_009601
2 TBX3 p.Tyr149Ser VAR_009602

Sources

Expression for Ulnar-Mammary Syndrome

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Search GEO for disease gene expression data for Ulnar-Mammary Syndrome.
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Pathways for Ulnar-Mammary Syndrome

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Pathways related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Heart Development 1
10.46 TBX5 TBX2 TBX1
Sources

GO Terms for Ulnar-Mammary Syndrome

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Cellular components related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.17 TBX5 TBX3 TBX2 TBX19 TBX18 TBX15

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.79 TBX5 TBX3 TBX1
2 positive regulation of cell proliferation GO:0008284 9.78 TBX3 TBX2 TBX1
3 multicellular organism development GO:0007275 9.72 TBX5 TBX3 TBX2 TBX18 TBX1
4 regulation of transcription by RNA polymerase II GO:0006357 9.71 TBX3 TBX19 TBX18 TBX1
5 roof of mouth development GO:0060021 9.6 TBX3 TBX2
6 pattern specification process GO:0007389 9.59 TBX5 TBX1
7 heart looping GO:0001947 9.58 TBX3 TBX2
8 embryonic digit morphogenesis GO:0042733 9.58 TBX3 TBX2
9 blood vessel development GO:0001568 9.57 TBX3 TBX1
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.56 TBX5 TBX2
11 embryonic cranial skeleton morphogenesis GO:0048701 9.55 TBX15 TBX1
12 embryonic forelimb morphogenesis GO:0035115 9.54 TBX5 TBX3
13 cell aging GO:0007569 9.52 TBX3 TBX2
14 outflow tract septum morphogenesis GO:0003148 9.51 TBX2 TBX1
15 cardiac muscle cell differentiation GO:0055007 9.49 TBX5 TBX3
16 cellular senescence GO:0090398 9.48 TBX3 TBX2
17 embryonic heart tube development GO:0035050 9.46 TBX3 TBX2
18 aorta morphogenesis GO:0035909 9.43 TBX2 TBX1
19 outflow tract morphogenesis GO:0003151 9.43 TBX3 TBX2 TBX1
20 forelimb morphogenesis GO:0035136 9.37 TBX5 TBX3
21 regulation of transcription, DNA-templated GO:0006355 9.17 TBX5 TBX3 TBX2 TBX19 TBX18 TBX15
22 mammary placode formation GO:0060596 9.16 TBX3 TBX2
23 heart morphogenesis GO:0003007 9.13 TBX3 TBX2 TBX1

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 TBX5 TBX3 TBX2 TBX19 TBX18 TBX15
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 TBX5 TBX3 TBX2 TBX19 TBX15
3 sequence-specific DNA binding GO:0043565 9.62 TBX5 TBX3 TBX2 TBX1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 TBX5 TBX3 TBX2 TBX19 TBX18 TBX15
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.37 TBX18 TBX15
6 DNA-binding transcription factor activity GO:0003700 9.17 TBX5 TBX3 TBX2 TBX19 TBX18 TBX15
Sources

Sources for Ulnar-Mammary Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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